Endocrine Abstracts

Introduction: Autoimmune hypothyroidism (AIH) associated with thyroid peroxidase antibodies (TPOAb) is a common cause of thyroid dysfunction. Disease etiology includes genetic predisposition (e.g., HLA-DR3, thyroid genes) and environmental triggers (e.g., iodine). AIH usually manifests during young adulthood and rarely under three years of age. Early-onset AIH may arise from monogenic disorders (e.g., STAT3, AIRE) with severe symptoms like immunodeficiency or...

Introduction: Thyroid gland pathology ranks first among endocrine diseases in children in Ukraine, and a similar trend has been observed over the last 20 years. In 2018y the prevalence of diffuse goiter was 277,708 patients (36.47 per 1000 population), nodular goiter - 2,311 patients (0.30:1000), diffuse toxic goiter - 341 patients (0.04:1000) and 129 cases of thyroid cancer (1.7:100,000). However, the Allan-Herndon-Dudley Syndrome is extremely rare and has not been previously...

Introduction: Thyroid Hormone Resistance (THR) is a rare clinical syndrome characterized by impaired end-organ responsiveness to Thyroid Hormone (TH). The cardinal features of this syndrome are elevated serum levels of free THs with normal or high TSH, often with goiter without clear symptoms of thyrotoxicosis. Mutations in the Thyroid Hormone Receptor beta (THRB) gene constitute the most frequent cause of RTH, defined as RTHβ, usually identified in late childhoo...

Objectives: Graves’ Disease (GD) is an autoimmune disorder and it is a type of hyperthyroidism. As for its multifactorial etiopathogenesis, it involves various causative agents - first and foremost genetic, as well as environmental (i.e. smoking) and existential ones. Apparently, children may be the group most impacted by genetic influences. Moreover, given disparate clinical responses to antithyroid agents depending on affected patients’ age – finding novel GD ...

Background: The treatment of Resistance to Thyroid Hormone beta (RTHb) is challenging because no therapy restores the euthyroid state in all tissues. Triac (triiodothyroacetic acid), a centrally-acting thyroid hormone analogue that preferentially activates thyroid hormone receptor beta, is reported to be beneficial in case reports or small case series.Methods: We have treated a cohort of adult RTHb patients with hyperthyroid symptoms with Triac for upto ...

Background: Defects in thyroid hormone synthesis at birth lead to congenital hypothyroidism (CH). CH is usually a sporadic disease, but around 10-20% of the cases are familial, involving mutations in thyroid-specific genes. Mutations in the SLC26A7 gene have recently been linked to dyshormonogenetic goitrous CH. Ion transporter SLC26A7 is highly expressed in the thyroid, and is involved in thyroid hormone synthesis, but its function remains unclear. To gain more insig...

Objectives: The risk of multinodular goiter (MNG) and cancer in tumor-predisposition syndromes, is not well established in both, children and adults. MNG is a common clinical feature of DICER1 syndrome in children and adults. DICER1 syndrome is caused by germline pathogenic mutations in the DICER1 gene. The spectrum of ultrasonographic findings of MNG in DICER1mut+ patients is characteristic and largely distinct from typical features of thyroid malignancy and therefore should ...

Objectives: Only (~21 different) heterozygous mutations in thyroid hormone receptor a (TRa), causing Resistance to Thyroid Hormone a (RTHa) have been recorded to date. Here, we report the first known case of RTHa due to a homozygous mutation in THRA, with unique clinical features.Methods: We ascertained clinical and biochemical features in the index case and his parents. Following identification of the THRA variant by ...

Background: The familial predisposition to the development of autoimmune thyroiditis disease (AITD), including both Graves’ and Hashimoto’s diseases, is well known. This evidence could be related to both common genetic susceptibility and environmental factors. Genetic anticipation has been reported in some Mendelian diseases, including non-thyroidal autoimmune diseases, as a phenomenon for which an accumulation of alterations in susceptibility genes, generation after...